NG10213
DNA from Fibroblast
Description:
COCKAYNE SYNDROME TYPE A - 216400
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Heritable Diseases |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Quantity |
10ug |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Arm
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY[19]
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
5 |
| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
The donor has clinical features of developmental delay, growth retardation, wasting of subcutaneous tissue, pin-point pupils which do not appear to react significantly to light, muscular atrophy present throughout extremities, and marked scissoring of legs along with marked dysmetria in the leg movements. The skin biopsy was taken ante-mortem on 8/23/88 from the right forearm. The culture was initiated using explants of minced skin tissue. The cell morphology is fibroblast-like. Same donor as AG28585 (iPSC). A skin fibroblast culture from donor's mother is AG10215. |
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